Author(s): Williamson J.; Holt J.
Source: Journal of the Royal College of Physicians of Edinburgh; 2017; vol. 47 (no. 2); p. 148-150
Publication Date: 2017
Publication Type(s): Article
Abstract:Acaeruloplasminaemia is a rare neurodegenerative disorder in which dysfunction of the caeruloplasmin gene results in brain iron accumulation alongside systemic iron overload. We discuss the case of a 53-year-old male who presented to neurology with a 4-year history of progressive neuropsychiatric symptoms and was eventually diagnosed with this condition. We discuss the characteristic clinical features and supporting laboratory and radiological findings as well as clinical pointers to help differentiate it from other conditions which might cause diagnostic confusion.
Copyright © 2017 Royal College of Physicians of Edinburgh.